The treatment of cardiac amyloidosis includes oral chemotherapy (melphalan and prednisone) or high-dose melphalan with autologous peripheral blood stem cell transplantation (HDM/SCT). The conventional approach is low-dose oral melphalan with prednisone administered in a cyclical manner; however, the impact of this regimen is modest and rarely results in a complete hematologic response or reversal of organ dysfunction.
Studies have demonstrated a 25%-75% complete response with HDM/SCT. A "complete response" is defined as the absence of monoclonal protein in serum and urine on immunofixation electrophoresis, a normal serum free light chain ratio, and a bone marrow biopsy with < 5% plasma cells and no clonal predominance. In a study by Skinner and colleagues involving 277 patients, HDM/SCT had a 40% complete hematologic response, with 47% survival at 5 years. The major limitation of HDM/SCT is the high rate of treatment-related mortality.
The Boston University amyloid program has put forward the following patient eligibility criteria for HDM/SCT treatment:
Confirmed tissue diagnosis
Evidence of plasma cell dyscrasia
Age > 18 years
Left ventricular ejection fraction > 40%
Supine systolic blood pressure > 90 mm Hg
Room air oxygen saturation > 95%
Performance status score of 0-2
Heart failure caused by amyloidosis is treated with careful diuresis, daily monitoring of fluid and salt intake, careful use of angiotensin-converting enzyme inhibitors, anticoagulation, and tetramer stabilizer therapy. Calcium-channel blockers and digoxin should be avoided. Heart transplantation followed by adjuvant chemotherapy is an option in people with end-stage heart failure.[15,16] Although survival in this group of patients has been statistically lower than that of other cardiac transplantation patients, those with end-stage heart failure still had a 5-year survival of up to 50%.
Amyloidosis is a rare cause of rapidly progressing heart failure. An important clue to the diagnosis of cardiac amyloidosis is the paradoxical finding of low-voltage complexes on ECG but concentric ventricular hypertrophy on echocardiography. As seen in the patient in this case, coronary angiography findings are usually normal because the epicardial vessels are not involved. This patient was started on furosemide and lisinopril and was referred to a transplant hematologist for stem cell transplantation and high-dose melphalan. Unfortunately, within 1 month, her condition deteriorated, and she died of multiorgan failure.
This case also highlights the importance of obtaining a biopsy from an affected organ if the clinical suspicion is high, particularly in cases where the initial fat pad biopsy is inconclusive. Timely referral to a specialized center is key to treating these patients because of the high mortality and rapid rate of progression of the disease.
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